Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000319694 [[29603426, 29603993], [29605800, 29606911]] [[29605945, 29606335]]
ENST00000450427 [[29605065, 29605369], [29605800, 29605999]] [[29605945, 29605999]]
NM_001329996 [[29603426, 29603993], [29605805, 29606911]] [[29605945, 29606335]]
NM_175887 [[29603426, 29603993], [29605800, 29606911]] [[29605945, 29606335]]
NM_001329997 [[29605148, 29605369], [29605800, 29606911]] [[29605945, 29606335]]
Promoter
Chrom Start End Description
chr7 29603394 29603427 CAGE_peak_3_at_PRR15_5end
chr7 29603436 29603471 CAGE_peak_1_at_PRR15_5end
chr7 29603477 29603510 CAGE_peak_2_at_PRR15_5end
chr7 29603521 29603533 CAGE_peak_4_at_PRR15_5end
chr7 29603552 29603566 CAGE_peak_5_at_PRR15_5end
chr7 29603594 29603599 CAGE_peak_11_at_PRR15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I029619 29619837 29620082 0.68 [{'connected_gene': 'PRR15', 'score': 18.06}, {'connected_gene': 'PLEKHA8', 'score': 13.88}, {'connected_gene': 'ENSG00000264520', 'score': 13.44}, {'connected_gene': 'FKBP14', 'score': 13.09}, {'connected_gene': 'ENSG00000223813', 'score': 10.8}, {'connected_gene': 'ENSG00000226874', 'score': 9.72}, {'connected_gene': 'ZNRF2P2', 'score': 4.72}, {'connected_gene': 'TMSB4XP3', 'score': 0.44}]
chr7 GH07I029612 29612247 29613653 0.43 [{'connected_gene': 'PRR15', 'score': 17.94}, {'connected_gene': 'ENSG00000223813', 'score': 10.98}, {'connected_gene': 'ENSG00000238906', 'score': 10.13}, {'connected_gene': 'DPY19L2P3', 'score': 6.32}, {'connected_gene': 'TMSB4XP3', 'score': 0.39}, {'connected_gene': 'ZNRF2P2', 'score': 0.19}]
chr7 GH07I029602 29602564 29603559 0.2 [{'connected_gene': 'PRR15', 'score': 18.72}, {'connected_gene': 'ENSG00000223813', 'score': 11.68}, {'connected_gene': 'DPY19L2P3', 'score': 5.59}, {'connected_gene': 'TMSB4XP3', 'score': 0.34}, {'connected_gene': 'ZNRF2P2', 'score': 0.18}]
chr7 GH07I029605 29605439 29610643 1.3 [{'connected_gene': 'PRR15', 'score': 19.24}, {'connected_gene': 'ENSG00000223813', 'score': 18.69}, {'connected_gene': 'DPY19L2P3', 'score': 6.21}, {'connected_gene': 'ZNRF2P2', 'score': 4.58}, {'connected_gene': 'TMSB4XP3', 'score': 0.37}]
chr7 GH07I029562 29562543 29568813 2.32 [{'connected_gene': 'PRR15', 'score': 558.74}, {'connected_gene': 'ENSG00000223813', 'score': 11.24}, {'connected_gene': 'CHN2', 'score': 4.79}, {'connected_gene': 'TMSB4XP3', 'score': 0.21}]
chr7 GH07I029487 29487226 29490896 1.26 [{'connected_gene': 'PRR15', 'score': 16.92}, {'connected_gene': 'ENSG00000223813', 'score': 10.5}, {'connected_gene': 'CHN2', 'score': 6.17}, {'connected_gene': 'GC07M029201', 'score': 0.29}, {'connected_gene': 'GC07P029212', 'score': 0.06}]
chr7 GH07I029483 29483033 29483961 1.09 [{'connected_gene': 'PRR15', 'score': 17.86}, {'connected_gene': 'ENSG00000223813', 'score': 10.05}, {'connected_gene': 'CHN2', 'score': 9.69}, {'connected_gene': 'GC07M029201', 'score': 0.26}, {'connected_gene': 'GC07P029212', 'score': 0.06}]
chr7 GH07I029622 29622080 29623685 0.91 [{'connected_gene': 'PRR15', 'score': 18.33}, {'connected_gene': 'ENSG00000223813', 'score': 10.65}, {'connected_gene': 'TMSB4XP3', 'score': 0.77}, {'connected_gene': 'ZNRF2P2', 'score': 0.21}]
chr7 GH07I029587 29587981 29589513 1.26 [{'connected_gene': 'PRR15', 'score': 18.41}, {'connected_gene': 'ENSG00000223813', 'score': 17.03}, {'connected_gene': 'TMSB4XP3', 'score': 0.28}]
chr7 GH07I029569 29569365 29570280 0.84 [{'connected_gene': 'PRR15', 'score': 7.23}, {'connected_gene': 'TMSB4XP3', 'score': 0.22}]
chr7 GH07I029588 29587461 29587513 0.2 [{'connected_gene': 'PRR15', 'score': 16.85}, {'connected_gene': 'ENSG00000223813', 'score': 11.49}, {'connected_gene': 'TMSB4XP3', 'score': 0.28}]
chr7 GH07I029586 29586335 29587388 0.2 [{'connected_gene': 'PRR15', 'score': 20.57}, {'connected_gene': 'ENSG00000223813', 'score': 16.28}, {'connected_gene': 'TMSB4XP3', 'score': 0.28}]
chr7 GH07I029595 29595930 29600445 0.58 [{'connected_gene': 'PRR15', 'score': 16.95}, {'connected_gene': 'ENSG00000223813', 'score': 15.8}, {'connected_gene': 'ZNRF2P2', 'score': 4.76}, {'connected_gene': 'TMSB4XP3', 'score': 0.31}]
chr7 GH07I029478 29478928 29481349 1.59 [{'connected_gene': 'CHN2', 'score': 560.17}, {'connected_gene': 'ENSG00000223813', 'score': 8.25}, {'connected_gene': 'PRR15', 'score': 7.73}, {'connected_gene': 'DPY19L2P3', 'score': 4.97}, {'connected_gene': 'GC07M029201', 'score': 0.26}, {'connected_gene': 'GC07P029212', 'score': 0.06}]
chr7 GH07I029624 29624105 29624254 0.46 [{'connected_gene': 'TMSB4XP3', 'score': 550.77}, {'connected_gene': 'PRR15', 'score': 18.61}, {'connected_gene': 'ENSG00000223813', 'score': 10.63}, {'connected_gene': 'ZNRF2P2', 'score': 0.21}]
chr7 GH07I029684 29684000 29686264 1.36 [{'connected_gene': 'ZNRF2P2', 'score': 569.6}, {'connected_gene': 'LOC646762', 'score': 550.77}, {'connected_gene': 'ENSG00000223813', 'score': 16.51}, {'connected_gene': 'DPY19L2P3', 'score': 13.17}, {'connected_gene': 'FKBP14', 'score': 13.08}, {'connected_gene': 'ENSG00000264520', 'score': 10.84}, {'connected_gene': 'PLEKHA8', 'score': 10.37}, {'connected_gene': 'PRR15', 'score': 6.34}, {'connected_gene': 'MIR550A3', 'score': 0.77}]
chr7 GH07I029449 29449650 29450614 0.82 [{'connected_gene': 'ZNRF2P2', 'score': 10.75}, {'connected_gene': 'ENSG00000223813', 'score': 10.56}, {'connected_gene': 'PRR15', 'score': 10.56}, {'connected_gene': 'GC07M029201', 'score': 0.19}, {'connected_gene': 'GC07P029212', 'score': 0.07}, {'connected_gene': 'CHN2', 'score': 0.05}]
chr7 GH07I029538 29538585 29538594 0.31 [{'connected_gene': 'ENSG00000223813', 'score': 11.78}, {'connected_gene': 'PRR15', 'score': 11.78}, {'connected_gene': 'LOC646745', 'score': 0.39}, {'connected_gene': 'GC07M029201', 'score': 0.39}]
chr7 GH07I029572 29572082 29574320 0.4 [{'connected_gene': 'ENSG00000223813', 'score': 11.36}, {'connected_gene': 'PRR15', 'score': 8.75}, {'connected_gene': 'CHN2', 'score': 6.34}, {'connected_gene': 'TMSB4XP3', 'score': 0.23}]
chr7 GH07I029485 29485383 29485916 0.76 [{'connected_gene': 'ENSG00000223813', 'score': 15.86}, {'connected_gene': 'PRR15', 'score': 10.49}, {'connected_gene': 'CHN2', 'score': 9.6}, {'connected_gene': 'GC07M029201', 'score': 0.28}, {'connected_gene': 'GC07P029212', 'score': 0.06}]
chr7 GH07I029466 29466934 29472903 0.72 [{'connected_gene': 'ENSG00000223813', 'score': 20.28}, {'connected_gene': 'PRR15', 'score': 10.89}, {'connected_gene': 'CHN2', 'score': 6.69}, {'connected_gene': 'GC07M029201', 'score': 0.23}, {'connected_gene': 'GC07P029212', 'score': 0.07}]
chr7 GH07I029496 29495956 29496931 0.52 [{'connected_gene': 'ENSG00000223813', 'score': 10.07}, {'connected_gene': 'PRR15', 'score': 5.94}, {'connected_gene': 'GC07M029201', 'score': 0.31}, {'connected_gene': 'GC07P029212', 'score': 0.06}, {'connected_gene': 'CHN2', 'score': 0.05}]
chr7 GH07I029482 29482264 29482508 0.4 [{'connected_gene': 'ENSG00000223813', 'score': 10.05}, {'connected_gene': 'PRR15', 'score': 10.05}, {'connected_gene': 'GC07M029201', 'score': 0.26}, {'connected_gene': 'GC07P029212', 'score': 0.06}, {'connected_gene': 'CHN2', 'score': 0.05}]
chr7 GH07I029613 29613745 29613914 0.43 [{'connected_gene': 'ENSG00000223813', 'score': 10.81}, {'connected_gene': 'PRR15', 'score': 10.81}, {'connected_gene': 'TMSB4XP3', 'score': 0.39}, {'connected_gene': 'ZNRF2P2', 'score': 0.19}]
chr7 GH07I029592 29592065 29594343 0.58 [{'connected_gene': 'ENSG00000223813', 'score': 20.28}, {'connected_gene': 'PRR15', 'score': 15.45}, {'connected_gene': 'TMSB4XP3', 'score': 0.29}]